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  • Immunodysregulation with polyendocrinopathy and enteropathy X-linked : the history of the disease from the care of a patient = Na kromosom X vezana imunska disregulacija s poliendokrinopatijo in enteropatijo : zgodovina bolezni glede na oskrbo bolnika
    Tommasini, A.
    Immunodysregulation with polyendocrinopathy and enteropathy X-linked is a severe disorder of immunity, with failure in immune tolerance, almost always fatal in the first years of life. While patients ... born in recent years had the possibility to be cured with haematopoietic stem cell transplantation, older patients rarely survived only with medical treatments. We describe the clinical history of one of these long-survivors, as a paradigm of translational research. The boy had to cope with his severe disorder for many years during which clinical and basic research on immunodysregulation with polyendocrinopathy and enteropathy X-linked proceeded, also thank to the studies involving himself We describe the advances in knowledge on this rare disease along with our patient-life timeline, hoping that new improvements in treatment of this disorder could come in the next future.
    Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 15, [št.] 1, 2008, str. 76-81)
    Type of material - article, component part
    Publish date - 2008
    Language - english
    COBISS.SI-ID - 24523737

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